GM01958

GM01958 Fibroblast

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Male

Age:

13 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Other Disorders of Known Biochemistry

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Diagnosed at age 3 months; very little pulmonary involvement; a deceased sib had cystic fibrosis; donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL)

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

602421.0001; CYSTIC FIBROSIS

Identified Mutation

PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508).

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 2

602421.0001; CYSTIC FIBROSIS

Identified Mutation

PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508).

Phenotypic Data

Remarks

Diagnosed at age 3 months; very little pulmonary involvement; a deceased sib had cystic fibrosis; donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL)

Publications

Stiff T, Reis C, Alderton GK, Woodbine L, O'Driscoll M, Jeggo PA, Nbs1 is required for ATR-dependent phosphorylation events. EMBO J24(1):199-208 2005

PubMed ID: 15616588